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Protein

Phosphatidylinositol-binding clathrin assembly protein

Gene

PICALM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction.1 Publication

GO - Molecular functioni

  • 1-phosphatidylinositol binding Source: UniProtKB
  • cadherin binding Source: BHF-UCL
  • clathrin binding Source: UniProtKB
  • clathrin heavy chain binding Source: BHF-UCL
  • low-density lipoprotein particle receptor binding Source: ARUK-UCL
  • phosphatidylinositol-4,5-bisphosphate binding Source: ARUK-UCL
  • Rab GTPase binding Source: ARUK-UCL
  • tau protein binding Source: Alzheimers_University_of_Toronto

GO - Biological processi

Keywordsi

Biological processEndocytosis

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiQ13492

Protein family/group databases

MoonDBiQ13492 Curated
MoonProtiQ13492

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol-binding clathrin assembly protein
Alternative name(s):
Clathrin assembly lymphoid myeloid leukemia protein
Gene namesi
Name:PICALM
Synonyms:CALM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000073921.17
HGNCiHGNC:15514 PICALM
MIMi603025 gene
neXtProtiNX_Q13492

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Coated pit, Cytoplasmic vesicle, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei648 – 649Breakpoint for translocation to form CALM/MLLT10 fusion protein2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi8301
MalaCardsiPICALM
OpenTargetsiENSG00000073921
Orphaneti99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA33287

Polymorphism and mutation databases

BioMutaiPICALM
DMDMi116242714

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001870622 – 652Phosphatidylinositol-binding clathrin assembly proteinAdd BLAST651

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei16PhosphoserineCombined sources1
Modified residuei20PhosphoserineCombined sources1
Cross-linki238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei303PhosphoserineCombined sources1
Modified residuei315PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13492
MaxQBiQ13492
PaxDbiQ13492
PeptideAtlasiQ13492
PRIDEiQ13492
ProteomicsDBi59489
59490 [Q13492-2]
59491 [Q13492-3]

PTM databases

iPTMnetiQ13492
PhosphoSitePlusiQ13492
SwissPalmiQ13492

Miscellaneous databases

PMAP-CutDBiQ13492

Expressioni

Tissue specificityi

Expressed in all tissues examined.1 Publication

Gene expression databases

BgeeiENSG00000073921 Expressed in 234 organ(s), highest expression level in corpus callosum
CleanExiHS_PICALM
ExpressionAtlasiQ13492 baseline and differential
GenevisibleiQ13492 HS

Organism-specific databases

HPAiHPA019053
HPA019061

Interactioni

Subunit structurei

Binds clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with PIMREG; this interaction may change the subcellular location into the nucleus.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL2Q141928EBI-2803688,EBI-701903

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113902, 103 interactors
ELMiQ13492
IntActiQ13492, 60 interactors
MINTiQ13492
STRINGi9606.ENSP00000377015

Structurei

3D structure databases

ProteinModelPortaliQ13492
SMRiQ13492
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 145ENTHPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni221 – 294Interaction with PIMREG1 PublicationAdd BLAST74

Sequence similaritiesi

Belongs to the PICALM/SNAP91 family.Curated

Phylogenomic databases

eggNOGiKOG0251 Eukaryota
ENOG410XQ90 LUCA
GeneTreeiENSGT00390000008805
HOGENOMiHOG000015764
HOVERGENiHBG049391
InParanoidiQ13492
KOiK20044
OMAiPTGMMAY
OrthoDBiEOG091G0810
PhylomeDBiQ13492
TreeFamiTF314861

Family and domain databases

Gene3Di1.20.58.150, 1 hit
1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR011417 ANTH_dom
IPR014712 Clathrin_AP_dom2
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR030412 PICALM
PANTHERiPTHR22951:SF16 PTHR22951:SF16, 1 hit
PfamiView protein in Pfam
PF07651 ANTH, 1 hit
SMARTiView protein in SMART
SM00273 ENTH, 1 hit
SUPFAMiSSF48464 SSF48464, 1 hit
PROSITEiView protein in PROSITE
PS50942 ENTH, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13492-1) [UniParc]FASTAAdd to basket
Also known as: Type I

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGQSLTDRI TAAQHSVTGS AVSKTVCKAT THEIMGPKKK HLDYLIQCTN
60 70 80 90 100
EMNVNIPQLA DSLFERTTNS SWVVVFKSLI TTHHLMVYGN ERFIQYLASR
110 120 130 140 150
NTLFNLSNFL DKSGLQGYDM STFIRRYSRY LNEKAVSYRQ VAFDFTKVKR
160 170 180 190 200
GADGVMRTMN TEKLLKTVPI IQNQMDALLD FNVNSNELTN GVINAAFMLL
210 220 230 240 250
FKDAIRLFAA YNEGIINLLE KYFDMKKNQC KEGLDIYKKF LTRMTRISEF
260 270 280 290 300
LKVAEQVGID RGDIPDLSQA PSSLLDALEQ HLASLEGKKI KDSTAASRAT
310 320 330 340 350
TLSNAVSSLA STGLSLTKVD EREKQAALEE EQARLKALKE QRLKELAKKP
360 370 380 390 400
HTSLTTAASP VSTSAGGIMT APAIDIFSTP SSSNSTSKLP NDLLDLQQPT
410 420 430 440 450
FHPSVHPMST ASQVASTWGD PFSATVDAVD DAIPSLNPFL TKSSGDVHLS
460 470 480 490 500
ISSDVSTFTT RTPTHEMFVG FTPSPVAQPH PSAGLNVDFE SVFGNKSTNV
510 520 530 540 550
IVDSGGFDEL GGLLKPTVAS QNQNLPVAKL PPSKLVSDDL DSSLANLVGN
560 570 580 590 600
LGIGNGTTKN DVNWSQPGEK KLTGGSNWQP KVAPTTAWNA ATMAPPVMAY
610 620 630 640 650
PATTPTGMIG YGIPPQMGSV PVMTQPTLIY SQPVMRPPNP FGPVSGAQIQ

FM
Length:652
Mass (Da):70,755
Last modified:October 17, 2006 - v2
Checksum:iAC3227E9D32AFEDA
GO
Isoform 2 (identifier: Q13492-2) [UniParc]FASTAAdd to basket
Also known as: Type II

The sequence of this isoform differs from the canonical sequence as follows:
     594-613: Missing.

Show »
Length:632
Mass (Da):68,764
Checksum:iD13D4427A30EE4FD
GO
Isoform 3 (identifier: Q13492-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-469: Missing.
     593-593: M → MNGMHFPQY

Note: No experimental confirmation available.
Show »
Length:610
Mass (Da):66,393
Checksum:i3B0D0AEB901CF85D
GO
Isoform 4 (identifier: Q13492-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.
     420-469: Missing.

Note: No experimental confirmation available.
Show »
Length:551
Mass (Da):59,918
Checksum:iA39E7E594F66D57F
GO
Isoform 5 (identifier: Q13492-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-426: Missing.

Note: No experimental confirmation available.
Show »
Length:645
Mass (Da):70,037
Checksum:iE4F76B25065B499A
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEF7H0YEF7_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
302Annotation score:
H0YD48H0YD48_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
264Annotation score:
H0YCY1H0YCY1_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
244Annotation score:
H0YEH1H0YEH1_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
308Annotation score:
E9PLJ8E9PLJ8_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
185Annotation score:
E9PKP6E9PKP6_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
148Annotation score:
E9PI56E9PI56_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
147Annotation score:
E9PK13E9PK13_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
105Annotation score:
H0YE97H0YE97_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
134Annotation score:
H0YEY8H0YEY8_HUMAN
Phosphatidylinositol-binding clathr...
PICALM
215Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence BAE06099 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti132N → D in BAG62035 (PubMed:14702039).Curated1
Sequence conflicti212N → H in AAB07762 (PubMed:8643484).Curated1
Sequence conflicti331E → G in BAG62035 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028191158T → P. Corresponds to variant dbSNP:rs12800974Ensembl.1
Natural variantiVAR_028192383S → F. Corresponds to variant dbSNP:rs12222608Ensembl.1
Natural variantiVAR_028193578W → C2 PublicationsCorresponds to variant dbSNP:rs1043858Ensembl.1
Natural variantiVAR_028194579Q → E2 PublicationsCorresponds to variant dbSNP:rs1043859Ensembl.1
Natural variantiVAR_028195641F → L. Corresponds to variant dbSNP:rs556337Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0445671 – 51Missing in isoform 4. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_009607420 – 469Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST50
Alternative sequenceiVSP_044568420 – 426Missing in isoform 5. 1 Publication7
Alternative sequenceiVSP_009608593M → MNGMHFPQY in isoform 3. 1 Publication1
Alternative sequenceiVSP_004067594 – 613Missing in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U45976 mRNA Translation: AAB07762.1
AK300275 mRNA Translation: BAG62035.1
AB210017 mRNA Translation: BAE06099.1 Different initiation.
AP000767 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75120.1
BC048259 mRNA Translation: AAH48259.2
BC064357 mRNA Translation: AAH64357.1
BC073961 mRNA Translation: AAH73961.1
AF060939 mRNA Translation: AAC16711.1
AF060940 mRNA Translation: AAC16712.1
CCDSiCCDS31653.1 [Q13492-3]
CCDS55783.1 [Q13492-4]
CCDS55784.1 [Q13492-5]
CCDS8272.1 [Q13492-1]
RefSeqiNP_001008660.1, NM_001008660.2 [Q13492-3]
NP_001193875.1, NM_001206946.1 [Q13492-5]
NP_001193876.1, NM_001206947.1 [Q13492-4]
NP_009097.2, NM_007166.3 [Q13492-1]
XP_005274388.1, XM_005274331.2 [Q13492-2]
UniGeneiHs.163893

Genome annotation databases

EnsembliENST00000356360; ENSP00000348718; ENSG00000073921 [Q13492-2]
ENST00000393346; ENSP00000377015; ENSG00000073921 [Q13492-1]
ENST00000526033; ENSP00000433846; ENSG00000073921 [Q13492-5]
ENST00000528398; ENSP00000434884; ENSG00000073921 [Q13492-4]
ENST00000532317; ENSP00000436958; ENSG00000073921 [Q13492-3]
GeneIDi8301
KEGGihsa:8301
UCSCiuc001pbl.4 human [Q13492-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U45976 mRNA Translation: AAB07762.1
AK300275 mRNA Translation: BAG62035.1
AB210017 mRNA Translation: BAE06099.1 Different initiation.
AP000767 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75120.1
BC048259 mRNA Translation: AAH48259.2
BC064357 mRNA Translation: AAH64357.1
BC073961 mRNA Translation: AAH73961.1
AF060939 mRNA Translation: AAC16711.1
AF060940 mRNA Translation: AAC16712.1
CCDSiCCDS31653.1 [Q13492-3]
CCDS55783.1 [Q13492-4]
CCDS55784.1 [Q13492-5]
CCDS8272.1 [Q13492-1]
RefSeqiNP_001008660.1, NM_001008660.2 [Q13492-3]
NP_001193875.1, NM_001206946.1 [Q13492-5]
NP_001193876.1, NM_001206947.1 [Q13492-4]
NP_009097.2, NM_007166.3 [Q13492-1]
XP_005274388.1, XM_005274331.2 [Q13492-2]
UniGeneiHs.163893

3D structure databases

ProteinModelPortaliQ13492
SMRiQ13492
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113902, 103 interactors
ELMiQ13492
IntActiQ13492, 60 interactors
MINTiQ13492
STRINGi9606.ENSP00000377015

Protein family/group databases

MoonDBiQ13492 Curated
MoonProtiQ13492

PTM databases

iPTMnetiQ13492
PhosphoSitePlusiQ13492
SwissPalmiQ13492

Polymorphism and mutation databases

BioMutaiPICALM
DMDMi116242714

Proteomic databases

EPDiQ13492
MaxQBiQ13492
PaxDbiQ13492
PeptideAtlasiQ13492
PRIDEiQ13492
ProteomicsDBi59489
59490 [Q13492-2]
59491 [Q13492-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356360; ENSP00000348718; ENSG00000073921 [Q13492-2]
ENST00000393346; ENSP00000377015; ENSG00000073921 [Q13492-1]
ENST00000526033; ENSP00000433846; ENSG00000073921 [Q13492-5]
ENST00000528398; ENSP00000434884; ENSG00000073921 [Q13492-4]
ENST00000532317; ENSP00000436958; ENSG00000073921 [Q13492-3]
GeneIDi8301
KEGGihsa:8301
UCSCiuc001pbl.4 human [Q13492-1]

Organism-specific databases

CTDi8301
DisGeNETi8301
EuPathDBiHostDB:ENSG00000073921.17
GeneCardsiPICALM
HGNCiHGNC:15514 PICALM
HPAiHPA019053
HPA019061
MalaCardsiPICALM
MIMi603025 gene
neXtProtiNX_Q13492
OpenTargetsiENSG00000073921
Orphaneti99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA33287
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0251 Eukaryota
ENOG410XQ90 LUCA
GeneTreeiENSGT00390000008805
HOGENOMiHOG000015764
HOVERGENiHBG049391
InParanoidiQ13492
KOiK20044
OMAiPTGMMAY
OrthoDBiEOG091G0810
PhylomeDBiQ13492
TreeFamiTF314861

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiQ13492

Miscellaneous databases

ChiTaRSiPICALM human
GeneWikiiPICALM
GenomeRNAii8301
PMAP-CutDBiQ13492
PROiPR:Q13492
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000073921 Expressed in 234 organ(s), highest expression level in corpus callosum
CleanExiHS_PICALM
ExpressionAtlasiQ13492 baseline and differential
GenevisibleiQ13492 HS

Family and domain databases

Gene3Di1.20.58.150, 1 hit
1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR011417 ANTH_dom
IPR014712 Clathrin_AP_dom2
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR030412 PICALM
PANTHERiPTHR22951:SF16 PTHR22951:SF16, 1 hit
PfamiView protein in Pfam
PF07651 ANTH, 1 hit
SMARTiView protein in SMART
SM00273 ENTH, 1 hit
SUPFAMiSSF48464 SSF48464, 1 hit
PROSITEiView protein in PROSITE
PS50942 ENTH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPICAL_HUMAN
AccessioniPrimary (citable) accession number: Q13492
Secondary accession number(s): B4DTM3
, E9PN05, F8VPG7, O60700, Q4LE54, Q6GMQ6, Q86XZ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: October 17, 2006
Last modified: September 12, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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